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rs121912299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912299(A;A)
Make rs121912299(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774650
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs121912299
ebirs121912299
HLIrs121912299
Exacrs121912299
Varsomers121912299
Maprs121912299
PheGenIrs121912299
hapmaprs121912299
1000 genomesrs121912299
hgdprs121912299
ensemblrs121912299
gopubmedrs121912299
geneviewrs121912299
scholarrs121912299
googlers121912299
pharmgkbrs121912299
gwascentralrs121912299
openSNPrs121912299
23andMers121912299
23andMe allrs121912299
SNP Nexus

SNPshotrs121912299
SNPdbers121912299
MSV3drs121912299
GWAS Ctlgrs121912299
Max Magnitude0
ClinVar
Risk rs121912299(A;A)
Alt rs121912299(A;A)
Reference rs121912299(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154002925G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000032190.2,


[PMID 10364516OA-icon.png] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.